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dbVar

Database of genomic structural variation

nsv6712000

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:4,344

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 102 SVs from 22 studies. See in: genome view

Submitted genomic119,145,555-119,149,898

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6712000	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	119,145,555	119,149,898
nsv6712000	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	118,864,402	118,868,745

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18473478	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18473478	Submitted genomic		NC_000003.12:g.119 145555_119149898de l	GRCh38 (hg38)		NC_000003.12	Chr3	119,145,555	119,149,898
nssv18473478	Remapped	Perfect	NC_000003.11:g.118 864402_118868745de l	GRCh37.p13	First Pass	NC_000003.11	Chr3	118,864,402	118,868,745

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18473478	1.1e-05	0	275464

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